Incidental Mutation 'R2894:Cenpu'
| ID |
260706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cenpu
|
| Ensembl Gene |
ENSMUSG00000031629 |
| Gene Name |
centromere protein U |
| Synonyms |
1700029A22Rik, Mlf1ip |
| MMRRC Submission |
040482-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47005063-47033042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 47029384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 212
(N212K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034045]
[ENSMUST00000040468]
[ENSMUST00000093518]
[ENSMUST00000135432]
[ENSMUST00000136335]
[ENSMUST00000211400]
[ENSMUST00000209787]
|
| AlphaFold |
Q8C4M7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034045
AA Change: N362K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034045
Gene: ENSMUSG00000031629
AA Change: N362K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
66 |
N/A |
INTRINSIC |
|
Pfam:CENP-U
|
138 |
312 |
6.5e-74 |
PFAM |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040468
|
| SMART Domains |
Protein: ENSMUSP00000036119
Gene: ENSMUSG00000038225
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Herpes_UL52
|
384 |
448 |
1.3e-19 |
PFAM |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093518
AA Change: N212K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091239
Gene: ENSMUSG00000031629
AA Change: N212K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CENP-U
|
39 |
162 |
4.6e-61 |
PFAM |
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122838
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209787
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E9.5, small embryo size and thickened visceral endoderm. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Targeted, other(2) Gene trapped(8) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
| Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
| Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
| Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Mdga1 |
T |
C |
17: 30,071,478 (GRCm39) |
Y381C |
probably damaging |
Het |
| Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,675,692 (GRCm39) |
M378K |
probably damaging |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
| Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
| Thoc6 |
A |
G |
17: 23,888,009 (GRCm39) |
S292P |
probably damaging |
Het |
| Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
probably damaging |
Het |
|
| Other mutations in Cenpu |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02540:Cenpu
|
APN |
8 |
47,031,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02968:Cenpu
|
APN |
8 |
47,009,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
3-1:Cenpu
|
UTSW |
8 |
47,026,523 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4403001:Cenpu
|
UTSW |
8 |
47,015,564 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0278:Cenpu
|
UTSW |
8 |
47,031,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1882:Cenpu
|
UTSW |
8 |
47,009,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Cenpu
|
UTSW |
8 |
47,025,872 (GRCm39) |
unclassified |
probably benign |
|
|
R4528:Cenpu
|
UTSW |
8 |
47,015,457 (GRCm39) |
nonsense |
probably null |
|
|
R5279:Cenpu
|
UTSW |
8 |
47,031,945 (GRCm39) |
splice site |
probably null |
|
|
R5384:Cenpu
|
UTSW |
8 |
47,015,534 (GRCm39) |
missense |
probably benign |
|
|
R6196:Cenpu
|
UTSW |
8 |
47,015,615 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6562:Cenpu
|
UTSW |
8 |
47,025,858 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6669:Cenpu
|
UTSW |
8 |
47,029,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Cenpu
|
UTSW |
8 |
47,029,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Cenpu
|
UTSW |
8 |
47,015,502 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7895:Cenpu
|
UTSW |
8 |
47,015,499 (GRCm39) |
missense |
probably benign |
|
|
R8395:Cenpu
|
UTSW |
8 |
47,007,084 (GRCm39) |
missense |
probably benign |
|
|
R8829:Cenpu
|
UTSW |
8 |
47,026,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACCTTAATATTTTCAGTCCAC -3'
(R):5'- GAGGAGTAACCGAGTCTTCCTTC -3'
Sequencing Primer
(F):5'- CTTAATATTTTCAGTCCACAAACACC -3'
(R):5'- GAGTCTTCCTTCCCTTCAGCAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation